### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CHCHD7) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "{{iNote}}" "CHCHD7" "coiled-coil-helix-coiled-coil-helix domain containing 7" "8" "q11.23" "unknown" "NC_000008.10" "UD_136086218494" "" "" "" "1" "1" "28314" "79145" "611238" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-15 15:07:22" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00001727" "CHCHD7" "transcript variant 1" "001" "NM_001011667.1" "" "NP_001011667.1" "" "" "" "-171" "1561" "246" "57124315" "57131178" "00001" "2013-11-15 15:15:38" "" "" "" "8" "00001728" "CHCHD7" "transcript variant 2" "002" "NM_001011668.1" "" "NP_001011668.1" "" "" "" "-171" "1517" "333" "57124315" "57131178" "00001" "2013-11-15 15:15:38" "" "" "" "8" "00001729" "CHCHD7" "transcript variant 3" "003" "NM_001011669.1" "" "NP_001011669.1" "" "" "" "-190" "1522" "207" "57124315" "57131178" "00001" "2013-11-15 15:15:38" "" "" "" "8" "00001730" "CHCHD7" "transcript variant 4" "004" "NM_024300.3" "" "NP_077276.2" "" "" "" "-190" "1478" "294" "57124315" "57131178" "00001" "2013-11-15 15:15:38" "" "" "" "8" "00001731" "CHCHD7" "transcript variant 5" "005" "NM_001011670.1" "" "NP_001011670.1" "" "" "" "-98" "1486" "171" "57124315" "57131178" "00001" "2013-11-15 15:15:38" "" "" "" "8" "00001732" "CHCHD7" "transcript variant 6" "006" "NM_001011671.1" "" "NP_001011671.1" "" "" "" "-98" "1442" "258" "57124315" "57131178" "00001" "2013-11-15 15:15:38" "" "" "" "8" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 0 ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 0 ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0